Stephen W Scherer

Summary

Affiliation: The Hospital for Sick Children
Country: Canada

Publications

  1. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
  2. ncbi request reprint The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1
    S W Scherer
    Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
    Genomics 44:232-6. 1997
  3. pmc Challenges and standards in integrating surveys of structural variation
    Stephen W Scherer
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, 101 College Street, Room 14 701, Ontario M5G 1L7, Canada
    Nat Genet 39:S7-15. 2007
  4. ncbi request reprint Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome
    Stephen W Scherer
    The Hospital for Sick Children, Toronto, Ontario, Canada
    Hum Mol Genet 13:R303-13. 2004
  5. pmc Recent segmental and gene duplications in the mouse genome
    Joseph Cheung
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
    Genome Biol 4:R47. 2003
  6. ncbi request reprint Altered expression and deletion of RMO1 in osteosarcoma
    Kolja Eppert
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    Int J Cancer 114:738-46. 2005
  7. pmc Towards a comprehensive structural variation map of an individual human genome
    Andy W Pang
    Department of Molecular Genetics, University of Toronto, 1 King s College Circle, Toronto, Ontario M5S 1A8, Canada
    Genome Biol 11:R52. 2010
  8. doi request reprint A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints
    John B Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    Psychiatr Genet 18:101-9. 2008
  9. ncbi request reprint Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy
    Hannes Lohi
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada M5G 1X8
    Hum Mol Genet 14:2727-36. 2005
  10. ncbi request reprint Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong
    Albert K Mensah
    Molecular Neuropsychiatry and Development Laboratory, Toronto, Canada
    Schizophr Res 95:228-35. 2007

Detail Information

Publications85

  1. pmc Human chromosome 7: DNA sequence and biology
    Stephen W Scherer
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
    Science 300:767-72. 2003
    ..This approach enabled the discovery of candidate genes for developmental diseases including autism...
  2. ncbi request reprint The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1
    S W Scherer
    Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
    Genomics 44:232-6. 1997
    ..3-q32.1 bands of chromosome 7. This observation is relevant to the study of Smith-Lemli-Opitz syndrome and an autosomal dominant form of retinitis pigmentosa (RP10), since they map to the same region...
  3. pmc Challenges and standards in integrating surveys of structural variation
    Stephen W Scherer
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, 101 College Street, Room 14 701, Ontario M5G 1L7, Canada
    Nat Genet 39:S7-15. 2007
    ..From this, we derive recommendations for standards to be adopted, with the aim of ensuring the accurate presentation of this form of genetic variation to facilitate ongoing research...
  4. ncbi request reprint Human chromosome 7 circa 2004: a model for structural and functional studies of the human genome
    Stephen W Scherer
    The Hospital for Sick Children, Toronto, Ontario, Canada
    Hum Mol Genet 13:R303-13. 2004
    ....
  5. pmc Recent segmental and gene duplications in the mouse genome
    Joseph Cheung
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
    Genome Biol 4:R47. 2003
    ..Here we present a database of recently duplicated regions of the mouse genome found in the mouse genome sequencing consortium (MGSC) February 2002 and February 2003 assemblies...
  6. ncbi request reprint Altered expression and deletion of RMO1 in osteosarcoma
    Kolja Eppert
    Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
    Int J Cancer 114:738-46. 2005
    ..Northern blot analysis indicated that RMO1 mRNA is ubiquitously expressed in tissues except for peripheral blood leukocytes. These data suggest that RMO1 may be a candidate for a protein involved in inhibiting tumor progression...
  7. pmc Towards a comprehensive structural variation map of an individual human genome
    Andy W Pang
    Department of Molecular Genetics, University of Toronto, 1 King s College Circle, Toronto, Ontario M5S 1A8, Canada
    Genome Biol 11:R52. 2010
    ..It is still unclear to what extent a typical genome differs from the reference assembly, and the analysis of the genomes sequenced to date have shown varying results for copy number variation (CNV) and inversions...
  8. doi request reprint A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints
    John B Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
    Psychiatr Genet 18:101-9. 2008
    ..Our aim is to use information from cytogenetic anomalies to identify candidate genes for autism...
  9. ncbi request reprint Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy
    Hannes Lohi
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada M5G 1X8
    Hum Mol Genet 14:2727-36. 2005
    ....
  10. ncbi request reprint Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong Kong
    Albert K Mensah
    Molecular Neuropsychiatry and Development Laboratory, Toronto, Canada
    Schizophr Res 95:228-35. 2007
    ..016). This study suggests that the 4q breakpoint regions may harbour a gene that contributes to the illness in the large Hong Kong pedigree, and this 4q25 region should be examined further in other schizophrenia samples...
  11. pmc Structural variation of chromosomes in autism spectrum disorder
    Christian R Marshall
    The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
    Am J Hum Genet 82:477-88. 2008
    ..Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup...
  12. pmc Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution
    Layla Parker-Katiraee
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    PLoS Genet 3:e65. 2007
    ..Thus, KLF14 may be the first example of an imprinted transcript undergoing accelerated evolution in the human lineage...
  13. doi request reprint Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q
    John B Vincent
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 150:817-26. 2009
    ..While a role for SH3TC2, ADRB2, and HTR4 as putative candidate genes for autism cannot be discounted, a role for the desmocollin genes at the 18q breakpoint should also be considered...
  14. doi request reprint Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
    Anath C Lionel
    The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada
    Hum Mol Genet 22:2055-66. 2013
    ..Our data also add to the accumulating evidence implicating neuronal synaptic gene products as key molecular factors underlying the etiologies of a diverse range of neurodevelopmental conditions...
  15. pmc Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies
    Lars Feuk
    The Centre for Applied Genomics, Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    PLoS Genet 1:e56. 2005
    ..The finding of at least three novel inversion polymorphisms in humans indicates this type of structural variation may be a more common feature of our genome than previously realized...
  16. pmc Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11
    Christian R Marshall
    Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Am J Hum Genet 83:106-11. 2008
    ..MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse...
  17. pmc A discovery resource of rare copy number variations in individuals with autism spectrum disorder
    Aparna Prasad
    The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto M5G 1L7, Canada
    G3 (Bethesda) 2:1665-85. 2012
    ..g., DPYD, UPB1, UPP1, TYMP). Finally, this extensively phenotyped and genotyped ASD clinical cohort serves as an invaluable resource for the next step of genome sequencing for complete genetic variation detection...
  18. pmc Contribution of SHANK3 mutations to autism spectrum disorder
    Rainald Moessner
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, M5G 1L7, Canada
    Am J Hum Genet 81:1289-97. 2007
    ..The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing...
  19. pmc Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene
    Mohammad M Ghahramani Seno
    The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
    BMC Med Genet 12:45. 2011
    ..Homozygous deletions (or CNV nulls) that are found in the normal population are of particular interest because they may serve to define non-essential genes in human biology...
  20. pmc Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
    Joseph Cheung
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada
    Genome Biol 4:R25. 2003
    ..We have developed rapid computational heuristics based on BLAST analysis to detect segmental duplications, as well as regions containing potential sequence misassignments in the human genome assemblies...
  21. ncbi request reprint Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region
    Dorota A Kwasnicka-Crawford
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada M5G 1X8
    J Autism Dev Disord 37:694-702. 2007
    ..This present case report reinforces the hypothesis that additional copies of this chromosome segment are causally related to autism...
  22. ncbi request reprint Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay
    Dorota A Kwasnicka-Crawford
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Genomics 86:182-94. 2005
    ..The ATP13A4 gene was shown to comprise a 3591-bp transcript encompassing 30 exons spanning 152 kb of the genomic DNA. This study discusses the characterization of ATP13A4 and its possible involvement in speech-language disorder...
  23. ncbi request reprint Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy
    Leonarda Ianzano
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
    Hum Mutat 23:170-6. 2004
    ....
  24. ncbi request reprint Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes
    Leonarda Ianzano
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Hum Mutat 26:397. 2005
    ..The database, which currently contains 66 entries is accessible on the World Wide Web (http://projects.tcag.ca/lafora). Entries can be submitted via the curator of the database or via a web-based form...
  25. pmc Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
    Abdul Noor
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Sci Transl Med 2:49ra68. 2010
    ..Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability...
  26. ncbi request reprint Expanded repeat in canine epilepsy
    Hannes Lohi
    The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Science 307:81. 2005
    ..Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy...
  27. pmc Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways
    Candice K Silversides
    Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University Health Network, Toronto, Ontario, Canada
    PLoS Genet 8:e1002843. 2012
    ..Further, the data provide new evidence for dosage sensitive genes in PLXNA2-semaphorin signaling and related developmental processes in human cardiovascular development, consistent with previous animal models...
  28. pmc Subgroup-specific structural variation across 1,000 medulloblastoma genomes
    Paul A Northcott
    Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
    Nature 488:49-56. 2012
    ..Numerous targetable SCNAs, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Group 4, suggest future avenues for rational, targeted therapy...
  29. ncbi request reprint Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomes
    Razi Khaja
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada
    Methods Mol Biol 338:9-20. 2006
    ..An introduction to bioinformatics tools and programs such as BLAST, Perl, BioPerl, and the GFF specification provides the necessary background to complete this analysis for any eukaryotic genome of interest...
  30. pmc A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes
    Sanaa Choufani
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Genome Res 21:465-76. 2011
    ....
  31. pmc Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissues
    Layla Parker-Katiraee
    Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada
    Hum Mol Genet 17:3263-70. 2008
    ..This study has important repercussions in the analysis of haplotypes at disease loci, since it implies that the expression of polymorphic alleles can be unequal and dynamic...
  32. pmc The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms
    Elaine Tam
    Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    Am J Med Genet A 146:1797-806. 2008
    ..Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features...
  33. doi request reprint A genotype resource for postmortem brain samples from the Autism Tissue Program
    Richard F Wintle
    Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Autism Res 4:89-97. 2011
    ..The genotype and CNV data are provided via the ATP informatics portal as a resource for the autism research community...
  34. ncbi request reprint Neuregulin 1-alpha regulates phosphorylation, acetylation, and alternative splicing in lymphoblastoid cells
    Mohammad M Ghahramani Seno
    a The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
    Genome 56:619-25. 2013
    ..Moreover, RPN2, a gene already shown to be dysregulated in breast cancer cells, is also differentially regulated by NRG1-alpha treatment...
  35. pmc Genome assembly comparison identifies structural variants in the human genome
    Razi Khaja
    Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, University of Toronto and The Centre for Applied Genomics, MaRS Centre, Toronto, Ontario, M5G 1L7, Canada
    Nat Genet 38:1413-8. 2006
    ..Our results uncover substantial undescribed variation in humans, highlighting the need for comprehensive annotation strategies to fully interpret genome scanning and personalized sequencing projects...
  36. doi request reprint Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
    Ann M Joseph-George
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
    J Med Genet 48:317-22. 2011
    ..The molecular characterisation of three of these four variants has been reported. In this study, the genomic structure of the fourth variant, an additional G-positive band at 9q13-q21, is characterised...
  37. doi request reprint Mechanisms of formation of structural variation in a fully sequenced human genome
    Andy Wing Chun Pang
    Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
    Hum Mutat 34:345-54. 2013
    ..3 and 6q27) of potential reference assembly orientation errors were found. This study provides a thorough account of formation mechanisms for structural variants, and reveals a glimpse of the dynamic structure of inversions...
  38. pmc Early-onset Lafora body disease
    Julie Turnbull
    Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
    Brain 135:2684-98. 2012
    ..The results to date suggest that PRDM8, the early-onset Lafora body disease protein, regulates the cytoplasmic quantities of the Lafora disease enzymes...
  39. pmc Subgroup-specific alternative splicing in medulloblastoma
    Adrian M Dubuc
    Division of Neurosurgery, Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada
    Acta Neuropathol 123:485-99. 2012
    ....
  40. doi request reprint Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome
    Shin ichi Horike
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 149:2415-23. 2009
    ..This patient series suggests that epimutations on chromosome 11p15 can be most efficiently detected in RSS patients by screening for DNA methylation defects at the H19 promoter or the distal region of ICR...
  41. pmc Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy
    Kazuhiko Nakabayashi
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada
    Am J Hum Genet 76:510-6. 2005
    ..Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair...
  42. ncbi request reprint Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy
    Elayne M Chan
    The Hospital for Sick Children and Department of Molecular and Medical Genetics, The University of Toronto, Toronto, Canada
    Hum Mol Genet 13:1117-29. 2004
    ..In addition, we show that the laforin interacting protein, EPM2AIP1, also localizes on the polyglucosan masses, and we confirm laforin's intense binding to LBs in human LD biopsy material...
  43. pmc Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
    Anne S Bassett
    Clinical Genetics Research Program, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
    Hum Mol Genet 17:4045-53. 2008
    ..2DS. The results reinforce the need for further efforts to identify specific molecular mechanisms underlying this expression and to identify the 1% of patients with schizophrenia who carry 22q11.2 deletions...
  44. doi request reprint Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy
    Danielle M Andrade
    Division of Neurology, Krembil Neuroscience Centre, University of Toronto, Toronto Western Hospital, 399 Bathurst Street, Toronto, Ontario, Canada
    Pediatr Neurol 47:205-8. 2012
    ..This work also exemplifies the potentiality of next-generation sequencing in the genetic identification and diagnosis of patients with neurologic diseases of unknown cause...
  45. ncbi request reprint Copy-number variation in control population cohorts
    Dalila Pinto
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Hum Mol Genet 16:R168-73. 2007
    ..We also discuss the need to expand surveys of CNV in different population-based cohorts and to apply the information to studies of human variation and disease...
  46. doi request reprint Contemplating effects of genomic structural variation
    Janet A Buchanan
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
    Genet Med 10:639-47. 2008
    ..Interpreting genotypes for personalized health care and communicating knowledge to the individual will be significant challenges for genomics professionals...
  47. ncbi request reprint Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast
    Takahiro Yamada
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    J Biol Chem 280:18283-90. 2005
    ..Moreover, APG9L2 is a vertebrate-specific gene that may have gained critical roles in mammalian-specific developmental events, such as placentation, through rapid evolution...
  48. pmc Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome
    Adam Shlien
    Program in Genetics and Genome Biology, Departments of Medical Biophysics, Centre for Applied Genomics, and Division of Hematology Oncology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
    Proc Natl Acad Sci U S A 105:11264-9. 2008
    ..Our results suggest that screening families predisposed to cancer for CNVs may identify individuals with an abnormally high number of these events...
  49. ncbi request reprint Characterization of the segmental duplication LCR7-20 in the human genome
    Xiangdong Liu
    The Centre for Applied Genomics, Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Genomics 83:262-9. 2004
    ..Our study also indicates that many genomic regions containing LCR7-20's either have been misassembled or are missing in current versions of the human genome sequence...
  50. pmc Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
    Lars Feuk
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Hum Genet 79:965-72. 2006
    ..Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development...
  51. ncbi request reprint Sequence variants within exon 1 of MECP2 occur in females with mental retardation
    Chris G Harvey
    Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, CAMH, University of Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 144:355-60. 2007
    ..We suggest some of these variants may be a relatively frequent cause of non-specific MR or developmental delay...
  52. pmc Duplication and relocation of the functional DPY19L2 gene within low copy repeats
    Andrew R Carson
    Department of Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ontario, Canada
    BMC Genomics 7:45. 2006
    ..Moreover, silencing of duplicate genes can have an indirect effect on adaptive evolution by causing genomic relocation of functional genes. These changes are theorized to have been a major factor in speciation...
  53. doi request reprint TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations
    Berivan Baskin
    Division of Molecular Genetics, The Hospital for Sick Children, Toronto, Canada
    Hum Genet 132:1245-52. 2013
    ..TMEM43 mutations occur outside of the founder population of the island of Newfoundland where it was originally described. TMEM43 sequencing should be incorporated into clinical genetic testing for ARVC patients. ..
  54. doi request reprint Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation
    Gregory Ryan Handrigan
    Division of Nephrology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada M5G1X8
    J Med Genet 50:163-73. 2013
    ..The disease associations of deletions in the intervening region, 16q24.2, have only been defined to a limited extent...
  55. pmc Evolutionary implications of inversions that have caused intra-strand parity in DNA
    Kohji Okamura
    The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, MaRS Centre, Toronto, Ontario, Canada
    BMC Genomics 8:160. 2007
    ..Within each strand, the symmetry of single nucleotide composition extends even further, being demonstrated in the balance of di-, tri-, and multi-nucleotides with their respective complementary oligonucleotides...
  56. ncbi request reprint Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome
    Xavier Estivill
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, and Department of Molecular and Medical Genetics, University of Toronto, ON, Canada
    Hum Mol Genet 11:1987-95. 2002
    ....
  57. ncbi request reprint Parents' perspectives on participating in genetic research in autism
    Magan Trottier
    Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada
    J Autism Dev Disord 43:556-68. 2013
    ..The results of this study highlight complex factors involved in families' decisions to participate in autism genetic research and provide points to consider for this population of research participants...
  58. pmc Identification of germline genomic copy number variation in familial pancreatic cancer
    Wigdan Al-Sukhni
    Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada
    Hum Genet 131:1481-94. 2012
    ..Further investigation in high-risk subjects may elucidate the role of one or more of these genes in genetic predisposition to pancreatic cancer...
  59. pmc Severe intellectual disability and autistic features associated with microduplication 2q23.1
    Brian H Y Chung
    Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
    Eur J Hum Genet 20:398-403. 2012
    ..This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved...
  60. pmc Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse
    Catherine F Li
    Program in Developmental Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    BMC Genomics 8:92. 2007
    ..SAMD9 was recently found to be mutated in normophosphatemic familial tumoral calcinosis. In this study, we studied the gene structure and function of SAMD9, and its paralogous gene, SAMD9L, and examined these in a variety of species...
  61. ncbi request reprint Germ-line DNA copy number variation frequencies in a large North American population
    George Zogopoulos
    Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Canada
    Hum Genet 122:345-53. 2007
    ..This North American population-based map will be a useful resource for future genetic studies...
  62. ncbi request reprint Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
    Brian H Y Chung
    Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada
    Eur J Med Genet 54:e516-20. 2011
    ..We propose that in addition to ID, the phenotypic spectrum associated with dup(X)(p11.22-p11.23) can include ASD, language impairment, and/or other primary psychiatric disorders...
  63. pmc Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children
    Stephen W Scherer
    Genetics and Genomic Biology Program, Sick Kids Hospital, Toronto, ON, M5G 1X8, Canada
    Hum Genet 117:383-8. 2005
    ....
  64. ncbi request reprint Genescript: DNA sequence annotation pipeline
    Alexander K Hudek
    Department of Genetics, The Hospital for Sick Children, Room 9107, Toronto, Ontario, M5G 1X8, Canada
    Bioinformatics 19:1177-8. 2003
    ..It provides an integrated display of results from each program, and includes an evidence-based scoring system that gives informative summaries of predicted gene models...
  65. doi request reprint Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma
    Paul A Northcott
    Division of Neurosurgery, Arthur and Sonia Labatt Brain Tumour Research Centre, Toronto, Ontario, Canada
    Nat Genet 41:465-72. 2009
    ....
  66. doi request reprint Whole genome scanning: resolving clinical diagnosis and management amidst complex data
    Sarah E Ali-Khan
    McLaughlin Rotman Centre for Global Health, University Health Network and University of Toronto, Toronto, Ontario M5G 1L7, Canada
    Pediatr Res 66:357-63. 2009
    ..We emphasize that addressing these issues now, and starting to evolve our healthcare systems in response, will be pivotal in avoiding harms and realizing the promise of these new technologies...
  67. ncbi request reprint On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies
    Hannes Lohi
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
    Adv Neurol 97:399-415. 2006
  68. ncbi request reprint Structural variants: changing the landscape of chromosomes and design of disease studies
    Lars Feuk
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada
    Hum Mol Genet 15:R57-66. 2006
    ..All these progresses have set the stage for a golden era of combined microscopic and sub-microscopic (cytogenomic)-based research of chromosomes leading to a more complete understanding of the human genome...
  69. ncbi request reprint Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands
    John B Vincent
    Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON, Canada
    Am J Med Genet B Neuropsychiatr Genet 129:82-4. 2004
    ..Our own study, screening a larger sample of 196 autism probands, failed to identify any mutations that would affect the coding regions of these genes. Our findings suggest that mutations in these two genes are infrequent in autism...
  70. pmc The cycle of genome-directed medicine
    Janet A Buchanan
    The Centre for Applied Genomics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
    Genome Med 1:16. 2009
    ..Medical infrastructure needs to adapt to the dramatic pace of technology development in the wake of the Human Genome Project, in order for genome data to be delivered as information and applied as knowledge to benefit health...
  71. pmc Rare deletions at the neurexin 3 locus in autism spectrum disorder
    Andrea K Vaags
    Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Hum Genet 90:133-41. 2012
    ..Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses...
  72. pmc Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprinting
    Kohji Okamura
    The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, MaRS Centre TMDT, 101 College Street, Toronto, Ontario M5G 1L7, Canada
    Genome Biol 9:R160. 2008
    ....
  73. pmc Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
    Dalila Pinto
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Nat Biotechnol 29:512-20. 2011
    ..The CNV resource presented here allows independent data evaluation and provides a means to benchmark new algorithms...
  74. pmc Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics Study
    Andrew P Boright
    Department of Medicine, University Health Network, University of Toronto, Toronto, Canada
    Diabetes 54:1238-44. 2005
    ..41 [0.22-0.78], P = 0.006). Our findings in the DCCT/EDIC cohort provide strong evidence that genetic variation at the ACE gene is associated with the development of nephropathy in patients with type 1 diabetes...
  75. ncbi request reprint Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
    Anath C Lionel
    The Centre for Applied Genomics and Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Sci Transl Med 3:95ra75. 2011
    ..2 region) were also revealed. Our results provide support for a role for rare CNVs in ADHD risk and reinforce evidence for the existence of common underlying susceptibility genes for ADHD, ASD, and other neuropsychiatric disorders...
  76. ncbi request reprint Frequent appearance of novel protein-coding sequences by frameshift translation
    Kohji Okamura
    The Centre for Applied Genomics, Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada ON M5G 1L7
    Genomics 88:690-7. 2006
    ....
  77. pmc Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million years
    Andrew R Carson
    The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
    BMC Evol Biol 9:156. 2009
    ..To eliminate genes that have been conserved due to strong purifying selection, our analysis also required at least one intron to have retained high sequence similarity between paralogues...
  78. ncbi request reprint Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse
    F Shama Fernando
    Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK
    Gene 284:23-9. 2002
    ..We have also determined the intron/exon structure of the gene, which will facilitate the screening of these exons for mutations in human neurodegenerative disorders...
  79. ncbi request reprint Detection of chromosome abnormalities in leukemia using fluorescence in situ hybridization
    Lyndal Kearney
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK
    Methods Mol Med 68:7-27. 2002
  80. ncbi request reprint Graft versus leukemia effect after haploidentical HSCT in a MLL-negative infant AML with HLXB9/ETV6 rearrangement
    Julia Hauer
    Pediatric Hematology and Oncology, LMU Munich, Dr von Haunersches Children s Hospital, Munich, Germany
    Pediatr Blood Cancer 50:921-3. 2008
    ..This case reinforces the potential benefit of a graft-versus-leukemia effect in the haploidentical setting even in chemoresistant myeloid leukemias with poor-prognosis molecular features...
  81. ncbi request reprint Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia
    Sabrina Tosi
    Leukaemia Research Fund Molecular Haematology Unit, Nuffield Department of Clinical Laboratory Science, John Radcliffe Hospital, Oxford, United Kingdom
    Genes Chromosomes Cancer 44:225-32. 2005
    ..This experiment resulted in the identification of a new fusion between NUP98 and C6orf80. Further studies will aim to fully characterize C6orf80 and will elucidate the role of this new NUP98 fusion in myeloid leukemia...
  82. ncbi request reprint Detection of Helicobacter spp. DNA in the oral cavity of dogs
    Camilla Recordati
    Dipartimento di Patologia Animale, Igiene e Sanita Pubblica Veterinaria, Sezione di Anatomia Patologica Veterinaria e Patologia Aviare, Facolta di Medicina Veterinaria, Universita degli Studi di Milano, Milano, Italy
    Vet Microbiol 119:346-51. 2007
    ..These findings support the possibility of oral-oral transmission between dogs and that the canine oral cavity may act as source of non-pylori Helicobacter spp. infection for humans...
  83. doi request reprint The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene density
    Concetta Federico
    Department Biologia Animale M La Greca, University of Catania, Catania, Italy
    Chromosoma 117:399-410. 2008
    ....
  84. ncbi request reprint Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome
    Jacqueline Boultwood
    Leukaemia Research Fund Molecular Haematology Unit, Nuffield Department of Clinical Laboratory Science, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
    Blood 99:4638-41. 2002
    ..These data now afford a comprehensive mutational/expression analysis of all candidate genes assigned to the CDR...
  85. ncbi request reprint Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemia
    Sabrina Tosi
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Genes Chromosomes Cancer 38:191-200. 2003
    ..These data show some heterogeneity in the distribution of breakpoints in 7q36, indicating that the generation of a fusion gene might not be the mechanism responsible for leukemogenesis in the t(7;12), at least in some cases...